Hemochromatosis type 1

Summary

Hemochromatosis type 1 (MONDO:0021001) is a disease caused by HFE (GenCC Definitive), with 7 cohort genes (2 GWAS associations across 1 studies) and 24 clinical trials. The dominant Reactome pathway is Transferrin endocytosis and recycling (3 cohort genes). Top therapeutic interventions include deferoxamine, deferiprone, and deferasirox.

At a glance

• Causal gene: HFE (GenCC Definitive)
• Cohort genes: 7
• GWAS associations: 2
• ClinVar variants: 83
• Clinical trials: 24

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	hemochromatosis type 1
Mondo ID	MONDO:0021001
EFO	EFO:0006513
OMIM	235200
Orphanet	139498
DOID	DOID:0111029
NCIT	C84764
UMLS	C3469186
MedGen	854011
Is cancer (heuristic)	no

Also known as: C282Y/C282Y hemochromatosis · classic hemochromatosis · hemochromatosis · hemochromatosis type 1 · hemochromatosis, type 1 · HFE-associated hereditary hemochromatosis · HFE-related hemochromatosis · HFE1 · symptomatic form of hemochromatosis type 1

Data availability: 83 ClinVar variants · 2 GWAS associations (1 study) · 6 GenCC gene-disease records · 25 cell lines.

Disease family

Classification path: disease › human disease › disease by developmental or physiological process › metabolic disease › mineral metabolism disease › iron metabolism disease › hemosiderosis › hereditary hemochromatosis › hemochromatosis type 1

Related subtypes (7): neonatal hemochromatosis, African iron overload, hemochromatosis type 3, hemochromatosis type 4, hemochromatosis type 5, hemochromatosis type 2, digenic hemochromatosis

Genetics & variants

GWAS landscape

2 GWAS associations across 1 studies. Top hits map to 1 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs3811647	2e-20	TF	?	0.4

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST002660	de Tayrac M	2014	474	0	Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	1

MAF distribution

Bucket	Variants
common (>=0.05)	1
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intron_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs3811647	3	133765185	G>A,C	0.05	intron_variant	TF	2e-20	Tier 4: intronic/intergenic

ClinVar germline variants

83 retrieved; paginated sample, class counts are floors:

45 uncertain significance, 10 conflicting classifications of pathogenicity, 8 pathogenic/likely pathogenic, 6 pathogenic, 6 likely pathogenic, 3 benign/likely benign, 2 benign, 1 conflicting classifications of pathogenicity; other, 1 not provided, 1 conflicting classifications of pathogenicity; other; risk factor

ClinVar	Variant (HGVS)	Gene	Classification	Review
1065637	NM_000410.4(HFE):c.1006+1G>A	HFE	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1071037	NM_000410.4(HFE):c.1022_1034del (p.His341fs)	HFE	Pathogenic	criteria provided, multiple submitters, no conflicts
1073981	NM_000410.4(HFE):c.211C>T (p.Arg71Ter)	HFE	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
18	NM_000410.4(HFE):c.989G>T (p.Arg330Met)	HFE	Pathogenic	no assertion criteria provided
19	NM_000410.4(HFE):c.848A>C (p.Gln283Pro)	HFE	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2152189	NM_000410.4(HFE):c.548T>C (p.Leu183Pro)	HFE	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
3075867	NM_000410.4(HFE):c.616+1G>A	HFE	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
3384778	NM_000410.4(HFE):c.166C>T (p.Gln56Ter)	HFE	Pathogenic	criteria provided, single submitter
407073	NM_000410.4(HFE):c.892G>T (p.Glu298Ter)	HFE	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
407079	NM_000410.4(HFE):c.546_547del (p.Leu183fs)	HFE	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
88946	NM_000410.4(HFE):c.502G>T (p.Glu168Ter)	HFE	Pathogenic	criteria provided, single submitter
2365	NM_213653.4(HJV):c.959G>T (p.Gly320Val)	HJV	Pathogenic	criteria provided, multiple submitters, no conflicts
2371	NM_213653.4(HJV):c.963C>A (p.Cys321Ter)	HJV	Pathogenic	no assertion criteria provided
802342	NM_003227.4(TFR2):c.2101C>T (p.Arg701Ter)	LOC113687175	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1185560	NM_000410.4(HFE):c.262A>T (p.Ser88Cys)	HFE	Likely pathogenic	no assertion criteria provided
1217279	NM_000410.4(HFE):c.688TAC[1] (p.Tyr231del)	HFE	Likely pathogenic	criteria provided, single submitter
2575054	NM_000410.4(HFE):c.340+1G>A	HFE	Likely pathogenic	no assertion criteria provided
3593440	NM_000410.4(HFE):c.106_109del (p.Gly36fs)	HFE	Likely pathogenic	criteria provided, single submitter
3593441	NM_000410.4(HFE):c.340+1G>T	HFE	Likely pathogenic	criteria provided, single submitter
633265	NM_000410.4(HFE):c.77-2_78delinsTGGAGTC	HFE	Likely pathogenic	criteria provided, single submitter
10	NM_000410.4(HFE):c.187C>G (p.His63Asp)	HFE	Conflicting classifications of pathogenicity; other	criteria provided, conflicting classifications
11	NM_000410.4(HFE):c.193A>T (p.Ser65Cys)	HFE	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
237780	NM_000410.4(HFE):c.1026C>T (p.Tyr342=)	HFE	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
356194	NM_000410.4(HFE):c.68G>A (p.Arg23His)	HFE	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
356196	NM_000410.4(HFE):c.829G>A (p.Glu277Lys)	HFE	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
356208	NM_000410.4(HFE):c.*988G>A	HFE	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
356209	NM_000410.4(HFE):c.*991C>T	HFE	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
414267	NM_000410.4(HFE):c.21G>A (p.Pro7=)	HFE	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
461195	NM_000410.4(HFE):c.884T>C (p.Val295Ala)	HFE	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
9	NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)	HFE	Conflicting classifications of pathogenicity; other; risk factor	criteria provided, conflicting classifications

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 7 · Orphanet: 14 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
HFE	Definitive	Autosomal recessive	hemochromatosis type 1	7

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
HFE	Orphanet:443057	Sporadic porphyria cutanea tarda
HFE	Orphanet:443062	Familial porphyria cutanea tarda
HFE	Orphanet:465508	Symptomatic form of HFE-related hemochromatosis
HFE	Orphanet:586	Cystic fibrosis
HFE	Orphanet:648581	Digenic hemochromatosis
SLC40A1	Orphanet:647834	SLC40A1-related hemochromatosis
SLC40A1	Orphanet:648562	Ferroportin disease
TF	Orphanet:1195	Congenital atransferrinemia
TFR2	Orphanet:225123	TFR2-related hemochromatosis
TFR2	Orphanet:648581	Digenic hemochromatosis
HAMP	Orphanet:648581	Digenic hemochromatosis
HAMP	Orphanet:79230	HJV or HAMP-related hemochromatosis
HJV	Orphanet:648581	Digenic hemochromatosis
HJV	Orphanet:79230	HJV or HAMP-related hemochromatosis

Cohort genes → proteins

7 cohort genes, 6 distinct canonical proteins.

Evidence partition

Subset	Genes
gwas_only	1
multi_evidence	6

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
HFE	HGNC:4886	ENSG00000010704	Q30201	Hereditary hemochromatosis protein	gencc,clinvar
SLC40A1	HGNC:10909	ENSG00000138449	Q9NP59	Ferroportin	clinvar
TF	HGNC:11740	ENSG00000091513	P02787	Serotransferrin	gwas
TFR2	HGNC:11762	ENSG00000106327	Q9UP52	Transferrin receptor protein 2	clinvar
HAMP	HGNC:15598	ENSG00000105697	P81172	Hepcidin	clinvar
HJV	HGNC:4887	ENSG00000168509	Q6ZVN8	Hemojuvelin	clinvar
HFE-AS1	HGNC:55168			HFE antisense RNA 1	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
HFE	Hereditary hemochromatosis protein	Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin.
SLC40A1	Ferroportin	Transports Fe(2+) from the inside of a cell to the outside of the cell, playing a key role for maintaining systemic iron homeostasis.
TF	Serotransferrin	Transferrins are iron binding transport proteins which can bind two Fe(3+) ions in association with the binding of an anion, usually bicarbonate.
TFR2	Transferrin receptor protein 2	Mediates cellular uptake of transferrin-bound iron in a non-iron dependent manner.
HAMP	Hepcidin	Liver-produced hormone that constitutes the main circulating regulator of iron absorption and distribution across tissues.
HJV	Hemojuvelin	Acts as a bone morphogenetic protein (BMP) coreceptor.

Protein-family classification

Druggable: 3 · Difficult: 0 · Unknown: 4 · Druggable fraction: 0.43

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Transporter	1	11.1×	0.289
Protease	1	5.2×	0.289
Antibody/Immunoglobulin	1	4.2×	0.289
Other/Unknown	4	1.0×	0.626

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
HFE	Antibody/Immunoglobulin	yes		MHC_I_a_a1/a2, Ig/MHC_CS, Ig_C1-set
SLC40A1	Transporter	yes		Ferroportin-1, MFS_trans_sf
TF	Other/Unknown	no		Transferrin-like_dom, Transferrin, Transferrin_Fe_BS
TFR2	Protease	yes		PA_domain, Peptidase_M28, TFR-like_dimer_dom_sf
HAMP	Other/Unknown	no		Hepcidin
HJV	Other/Unknown	no		RGM_C, RGM_N, RGM
HFE-AS1	Other/Unknown	no

Expression context

Cohort genes with no expression data: 1.

6 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	6
unknown	1

Top tissues across cohort

Tissue	Cohort genes
right lobe of liver	2
olfactory bulb	1
stromal cell of endometrium	1
type B pancreatic cell	1
epithelial cell of pancreas	1
oviduct epithelium	1
pancreatic ductal cell	1
corpus callosum	1
inferior vagus X ganglion	1
medulla oblongata	1
liver	1
vena cava	1
cardiac atrium	1
right atrium auricular region	1
gastrocnemius	1
hindlimb stylopod muscle	1
skeletal muscle tissue of rectus abdominis	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
HFE	238	ubiquitous	marker	type B pancreatic cell, olfactory bulb, stromal cell of endometrium
SLC40A1	260	ubiquitous	marker	pancreatic ductal cell, epithelial cell of pancreas, oviduct epithelium
TF	249	broad	marker	inferior vagus X ganglion, medulla oblongata, corpus callosum
TFR2	188	tissue_specific	marker	right lobe of liver, liver, vena cava
HAMP	223	broad	marker	right lobe of liver, right atrium auricular region, cardiac atrium
HJV	147	tissue_specific	marker	hindlimb stylopod muscle, skeletal muscle tissue of rectus abdominis, gastrocnemius
HFE-AS1

Protein interactions among cohort

Intra-cohort edges: 11.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
TF	2,217
HAMP	1,580
HFE	1,569
SLC40A1	1,387
TFR2	1,077
HJV	780
HFE-AS1	0

Intra-cohort edges

A	B	Sources
HAMP	HFE	string_interaction
HAMP	HJV	string_interaction
HAMP	SLC40A1	string_interaction
HAMP	TFR2	string_interaction
HFE	HJV	string_interaction
HFE	SLC40A1	string_interaction
HFE	TFR2	string_interaction
HJV	SLC40A1	string_interaction
HJV	TFR2	string_interaction
SLC40A1	TFR2	string_interaction
TF	TFR2	biogrid_interaction

Structural data

PDB: 5 · AlphaFold-only: 1 · No structure: 1

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
TF	P02787	66
SLC40A1	Q9NP59	8
HAMP	P81172	6
HFE	Q30201	2
HJV	Q6ZVN8	2

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
TFR2	Q9UP52	83.98

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 18. Enrichment computed across 7 evidence-associated genes (5 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 5 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Transferrin endocytosis and recycling	3	221.0×	2e-06	HFE, TF, TFR2
Iron uptake and transport	3	207.6×	2e-06	SLC40A1, TF, TFR2
Defective SLC40A1 causes hemochromatosis 4 (HFE4) (macrophages)	1	1142.0×	0.003	SLC40A1
Defective CP causes aceruloplasminemia (ACERULOP)	1	1142.0×	0.003	SLC40A1
Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum)	1	1142.0×	0.003	SLC40A1
Metal ion SLC transporters	1	120.2×	0.025	SLC40A1
Netrin-1 signaling	1	87.8×	0.029	HJV
Transport of small molecules	2	10.1×	0.033	SLC40A1, TFR2
SLC transporter disorders	1	40.8×	0.049	SLC40A1
R-HSA-425366	1	36.2×	0.049	SLC40A1
Disorders of transmembrane transporters	1	27.9×	0.058	SLC40A1
Cargo recognition for clathrin-mediated endocytosis	1	20.9×	0.064	TF
Post-translational protein phosphorylation	1	20.0×	0.064	TF
Platelet degranulation	1	17.6×	0.064	TF
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)	1	17.3×	0.064	TF
Clathrin-mediated endocytosis	1	17.0×	0.064	TF
SLC-mediated transmembrane transport	1	11.8×	0.087	SLC40A1
Disease	1	2.6×	0.328	SLC40A1

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 6 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
multicellular organismal-level iron ion homeostasis	6	581.1×	8e-16	HFE, SLC40A1, TF, TFR2, HAMP, HJV
intracellular iron ion homeostasis	6	244.2×	1e-13	HFE, SLC40A1, TF, TFR2, HAMP, HJV
cellular response to iron ion	3	1203.7×	2e-08	HFE, TF, TFR2
response to iron ion	3	468.1×	3e-07	HFE, TFR2, HAMP
transferrin transport	2	510.7×	5e-05	HFE, TFR2
positive regulation of peptide hormone secretion	2	510.7×	5e-05	HFE, TFR2
iron ion transport	2	295.6×	1e-04	TF, TFR2
positive regulation of receptor-mediated endocytosis	2	267.5×	1e-04	HFE, TF
negative regulation of iron ion transmembrane transport	1	2808.7×	0.001	HAMP
spleen trabecula formation	1	2808.7×	0.001	SLC40A1
endocytic iron import into cell	1	2808.7×	0.001	TFR2
positive regulation of protein maturation	1	2808.7×	0.001	TFR2
iron ion export across plasma membrane	1	2808.7×	0.001	SLC40A1
negative regulation of iron export across plasma membrane	1	2808.7×	0.001	HAMP
negative regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I	1	2808.7×	0.001	HFE
negative regulation of intestinal absorption	1	2808.7×	0.001	HAMP
receptor-mediated endocytosis	2	73.9×	0.001	HFE, TFR2
positive regulation of proteasomal ubiquitin-dependent protein catabolic process	2	70.2×	0.001	TF, HAMP
BMP signaling pathway	2	66.9×	0.001	HFE, HJV
regulation of iron ion transport	1	1404.3×	0.002	HFE
response to iron ion starvation	1	936.2×	0.003	HFE
negative regulation of CD8-positive, alpha-beta T cell activation	1	702.2×	0.003	HFE
negative regulation of T cell cytokine production	1	401.2×	0.006	HFE
iron ion transmembrane transport	1	401.2×	0.006	SLC40A1
transcription by RNA polymerase II	2	23.5×	0.006	SLC40A1, HJV
lymphocyte homeostasis	1	312.1×	0.007	SLC40A1
regulation of protein localization to cell surface	1	280.9×	0.007	HFE
cell surface receptor signaling pathway	2	21.4×	0.007	HFE, TF
urate metabolic process	1	255.3×	0.007	HFE
hormone biosynthetic process	1	234.1×	0.008	HFE

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 1 · Undrugged: 6

Druggability breadth: 4 of 7 evidence-associated genes (57%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
SLC40A1	1	1
HFE	0	0
TF	0	0
TFR2	0	0
HAMP	0	0
HJV	0	0
HFE-AS1	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
VAMIFEPORT HYDROCHLORIDE	1	SLC40A1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
TF	22	Binding:13, Functional:9
SLC40A1	14	Binding:14
HAMP	9	Binding:9

Pharmacogenomics

Cohort genes with a PharmGKB record: 6; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

1 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Compound	Max phase	Cohort target (bioactivity)
VAMIFEPORT HYDROCHLORIDE	1	SLC40A1

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	1	SLC40A1
C	Druggable family + PDB, no drug	1	HFE
D	Druggable family + AlphaFold only, no drug	1	TFR2
E	Difficult family or no structure, no drug	4	TF, HAMP, HJV, HFE-AS1

Undrugged target profiles

6 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
TFR2	0	SLC40A1
HAMP	9	SLC40A1
HFE	0	—
TF	22	—
HJV	0	—
HFE-AS1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 24.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	16
PHASE2	4
PHASE3	3
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00122980	PHASE3	TERMINATED	Stroke With Transfusions Changing to Hydroxyurea
NCT00202436	PHASE3	COMPLETED	Haemochromatosis:Phlebotomy Versus Erythrocytapheresis Therapy
NCT00350662	PHASE3	COMPLETED	Study With Deferiprone and/or Desferrioxamine in Iron Overloaded Patients
NCT00007150	PHASE2	ACTIVE_NOT_RECRUITING	Treatment of Hemochromatosis
NCT00000595	PHASE2	COMPLETED	Evaluation of Subcutaneous Desferrioxamine as Treatment for Transfusional Hemochromatosis
NCT00349453	PHASE2	COMPLETED	Study Using Deferiprone Alone or in Combination With Desferrioxamine in Iron Overloaded Transfusion-dependent Patients
NCT01892644	PHASE2	WITHDRAWN	Treatment of Iron Overload With Deferasirox (Exjade) in Hereditary Hemochromatosis and Myelodysplastic Syndrome
NCT00712738	PHASE1	COMPLETED	Oral Nifedipine to Treat Iron Overload
NCT00001203	Not specified	COMPLETED	Deferoxamine for the Treatment of Hemochromatosis
NCT00001455	Not specified	COMPLETED	Iron Overload in African Americans
NCT00005541	Not specified	COMPLETED	Hemochromatosis and Iron Overload Screening Study (HEIRS)
NCT00005559	Not specified	COMPLETED	Statistical Basis for Hemochromatosis Screening
NCT00006312	Not specified	COMPLETED	Hemochromatosis–Genetic Prevalence and Penetrance
NCT00199628	Not specified	COMPLETED	Research Network for Neonatal Diseases Induced by Tissular Fetomaternal Alloimmunization
NCT00509652	Not specified	UNKNOWN	Erythrocyte Apheresis Versus Phlebotomy in Hemochromatosis
NCT00587535	Not specified	COMPLETED	Evaluation of a New MR Pulse Sequence to Quantify Liver Iron Concentration
NCT01524757	Not specified	UNKNOWN	Proton Pump Inhibitors in the Prevention of Iron Reaccumulation in Patient With Hereditary Hemochromatosis
NCT01810965	Not specified	COMPLETED	Impact of Bloodletting on Iron Metabolism in Type 1 Hemochromatosis
NCT02025543	Not specified	COMPLETED	Confounder-Corrected Quantitative MRI Biomarker of Hepatic Iron Content
NCT02099214	Not specified	COMPLETED	Estimation of Myocardial Iron Overload by 3 Tesla MRI in HFE Hereditary Haemochromatosis
NCT03654794	Not specified	COMPLETED	Study of the Cellular Diffusion of Tacrolimus Across the Membrane of Mononuclear Cells
NCT03743272	Not specified	COMPLETED	Repeatability and Reproducibility of Multiparametric MRI
NCT04631718	Not specified	COMPLETED	MRI QSM Imaging for Iron Overload
NCT06137079	Not specified	UNKNOWN	Iron Overload and Endocrinological Diseases

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
DEFEROXAMINE	4	3
DEFERIPRONE	4	2
DEFERASIROX	4	1
HYDROXYUREA	4	1
NIFEDIPINE	4	1
CHEMBL4635234	0	1